ClinVar Miner

List of variants reported for Neurodevelopmental delay by Duke University Health System Sequencing Clinic, Duke University Health System

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys) rs1294150954 0.00001
NM_001194.4(HCN2):c.1432_1434del (p.Glu478del) rs2144522815
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001379451.1(BCORL1):c.4324C>T (p.Gln1442Ter) rs2522832906
NM_006047.6(RBM12):c.1046A>T (p.Lys349Met) rs1296694351
NM_019606.6(MEPCE):c.1552C>T (p.Arg518Ter) rs779599567

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